DEAFNESS, AUTOSOMAL RECESSIVE 3

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
NSRD3
DFNB3
Number of Symptoms 3
OrphanetNr:
OMIM Id: 600316
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011476) Profound sensorineural hearing impairment 7 / 7739
2
(OMIM) Profound, congenital, neurosensory, nonsyndromal deafness 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Friedman et al. (1995) reported that 2% of the residents of Bengkala, an Indonesian village on the north shore of Bali, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at a locus designated DFNB3 ...
Molecular genetics OMIM In a large multigenerational consanguineous Brazilian pedigree with prelingual severe to profound sensorineural deafness, negative for mutations in the deafness-associated GJB2 (121011) and GJB6 (604418) genes and for the A1555G mitochondrial mutation in the MTRNR1 gene (561000.0001), Lezirovitz ...
Population genetics OMIM Winata et al. (1995) studied further the congenital deafness prevalent in the Bengkala village population. They estimated the frequency of the DFNB3 mutant allele to be 9.4% among hearing people, who have a 17.2% chance of being heterozygotes. ...